Canonical Allele Identifier: CA280463

Gene: MEFV

Linked Data

• ClinVar Variation Id: 97469
• ClinVar RCV Id: RCV000083721
• dbSNP Id: rs104895147
• MyVariant Identifiers: chr16:g.3293566T>A (hg19) ; chr16:g.3243566T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243566T>A , CM000678.2:g.3243566T>A	GRCh38
NC_000016.9:g.3293566T>A , CM000678.1:g.3293566T>A	GRCh37
NC_000016.8:g.3233567T>A	NCBI36
NG_007871.1:g.18062A>T , LRG_190:g.18062A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1042A>T
ENST00000219596.6:c.1921A>T MANE Select	ENSP00000219596.1:p.Ile641Phe
ENST00000219596.5:c.1921A>T	ENSP00000219596.1:p.Ile641Phe
ENST00000339854.8:c.1381A>T	ENSP00000339639.4:p.Ile461Phe
ENST00000536379.5:c.1288A>T	ENSP00000445079.1:p.Ile430Phe
ENST00000536980.5:c.*197A>T	ENSP00000444178.1:n.*197A>T
ENST00000537682.5:c.*197A>T	ENSP00000438611.1:n.*197A>T
ENST00000538326.5:c.*546A>T	ENSP00000437486.1:n.*546A>T
ENST00000539145.5:c.842A>T	ENSP00000444471.1:n.842A>T
ENST00000541159.5:c.1463A>T	ENSP00000438711.1:n.1463A>T
ENST00000542898.5:c.*197A>T	ENSP00000444615.1:n.*197A>T
ENST00000570511.5:c.1326A>T	ENSP00000458312.1:n.1326A>T
ENST00000572244.5:c.611A>T	ENSP00000461186.1:n.611A>T
ENST00000574583.5:c.693A>T	ENSP00000460269.1:n.693A>T
ENST00000576315.5:c.726A>T	ENSP00000460551.1:n.726A>T
ENST00000621655.1:c.1458A>T	ENSP00000481436.1:n.1458A>T
NM_000243.2:c.1921A>T , LRG_190t1:c.1921A>T	NP_000234.1:p.Ile641Phe
NM_001198536.1:c.*125A>T	NP_001185465.1:n.*125A>T
XM_017023236.2:c.1918A>T	XP_016878725.1:p.Ile640Phe
NM_000243.3:c.1921A>T MANE Select	NP_000234.1:p.Ile641Phe
NM_001198536.2:c.*125A>T	NP_001185465.2:n.*125A>T